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722392003: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3326710012 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326711011 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331831014 Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331832019 Enteric anendocrinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402917014 A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402918016 A very rare genetic gastroenterological disease characterised by severe malabsorptive diarrhoea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhoea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with coeliac disease have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326710012 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326710012 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326711011 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326711011 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331831014 Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331831014 Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331832019 Enteric anendocrinosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331832019 Enteric anendocrinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331833012 An exceedingly rare genetic gastroenterological disease characterized by severe malabsorption diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331834018 An exceedingly rare genetic gastroenterological disease characterised by severe malabsorption diarrhoea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhoea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402917014 A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402918016 A very rare genetic gastroenterological disease characterised by severe malabsorptive diarrhoea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhoea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with coeliac disease have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3411431001000119 Anendokrinose, enterische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885611000241117 anendocrinose entérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885621000241112 diarrhée malabsorptive congénitale par diminution des cellules entéroendocrines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885611000241117 anendocrinose entérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5885621000241112 diarrhée malabsorptive congénitale par diminution des cellules entéroendocrines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411431001000119 Anendokrinose, enterische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a Chronic diarrhea of infants AND/OR young children (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a Malabsorption syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Has definitional manifestation Diarrhea false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Finding site Gastrointestinal tract structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Finding site Intestinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Interprets Bowel action false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Has interpretation Altered (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Interprets Digestive system function false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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